Varaico: Literature-Extracted Genetic Variants

PARP1

1,199 papers

RefSeq Summary

This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved i...

Pfam Domains

zf-PARPaa 12–89UCSCPoly(ADP-ribose) polymerase and DNA-Ligase Zn-finger region

zf-PARPaa 116–199UCSCPoly(ADP-ribose) polymerase and DNA-Ligase Zn-finger region

PADR1_Naa 231–290UCSCPADR1, N-terminal helical domain

Zn_ribbon_PADR1aa 291–331UCSCPADR1 domain, zinc ribbon fold

BRCTaa 385–462UCSCBRCA1 C Terminus (BRCT) domain

WGRaa 553–633UCSCWGR domain

Gene Aliases

HGNC Name

poly(ADP-ribose) polymerase 1

HGNC Previous Symbols

PPOL; ADPRT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001618.4

p.F553L

c.1657T>C

Surrounding Variants

1 paper

NM_001618.4

p.V552delFs

c.1654delC

2 papers

NM_001618.4

p.F553L

c.1659C>G

2 papers

NM_001618.4

p.F553L

c.1659C>A

1 paper

NM_001618.4

p.G550E

c.1649G>A

1 paper

NM_001618.4

p.G550R

c.1648G>C

1 paper

NM_001618.4

p.G550R

c.1648G>A

1 paper

NM_001618.4

p.G549A

c.1646G>C

3 papers

NM_001618.4

p.K548R

c.1643A>G

15 papers

NM_001618.4

p.G558S

c.1672G>A

1 paper

NM_001618.4

p.G558V

c.1673G>T

1 paper

NM_001618.4

p.E547G

c.1640A>G

1 paper

NM_001618.4

p.E547K

c.1639G>A